Canonical Allele Identifier: PA170327
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143618
ClinVar RCV Id: RCV000133158 RCV003990991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Gly195Arg
CA170325
NM_001110792.2:c.583G>C
CA415173745
NM_001110792.2:c.583G>A